Revel Score:
ENST00000376665
0.340
ENST00000447551
0.340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48794162T>C , CM000685.2:g.48794162T>C | GRCh38 |
| NC_000023.10:g.48652569T>C , CM000685.1:g.48652569T>C | GRCh37 |
| NC_000023.9:g.48537513T>C | NCBI36 |
| NG_008846.2:g.12589T>C , LRG_559:g.12589T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.991T>C | ENSP00000498550.1:p.Ter331Arg | |
| ENST00000696450.1:c.1255T>C | ENSP00000512637.1:p.Ter419Arg | |
| ENST00000696451.1:c.1006T>C | ENSP00000512638.1:p.Ter336Arg | |
| ENST00000696452.1:c.1030T>C | ENSP00000512639.1:p.Ter344Arg | |
| ENST00000376670.9:c.1240T>C MANE Select | ENSP00000365858.3:p.Ter414Arg | |
| ENST00000651144.1:c.991T>C | ENSP00000498550.1:p.Ter331Arg | |
| ENST00000376665.4:c.899T>C | ENSP00000365853.3:p.Met300Thr | |
| ENST00000376670.7:c.1240T>C | ENSP00000365858.3:p.Ter414Arg | |
| NM_002049.3:c.1240T>C , LRG_559t1:c.1240T>C | NP_002040.1:p.Ter414Arg | |
| XM_011543897.1:c.1255T>C | XP_011542199.1:p.Ter419Arg | |
| XM_011543898.1:c.1006T>C | XP_011542200.1:p.Ter336Arg | |
| XM_011543897.2:c.1255T>C | XP_011542199.1:p.Ter419Arg | |
| XM_011543898.2:c.1006T>C | XP_011542200.1:p.Ter336Arg | |
| XM_024452363.1:c.991T>C | XP_024308131.1:p.Ter331Arg | |
| NM_002049.4:c.1240T>C MANE Select | NP_002040.1:p.Ter414Arg |